ClinVar Miner

Submissions for variant NM_005589.4(ALDH6A1):c.636G>A (p.Glu212=)

gnomAD frequency: 0.01439  dbSNP: rs8008790
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000400916 SCV000388406 likely benign Methylmalonate semialdehyde dehydrogenase deficiency 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000957228 SCV001104026 benign not provided 2025-02-02 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000957228 SCV005212509 likely benign not provided criteria provided, single submitter not provided

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